Cytochrome P450 enzymes play an important role in phase I drug metabolism, accounting for approximately 75% of the enzymatic processes. We investigated the allele and phenotypic distributions of five important CYPgenes (CYP2B6, CYP3A5, CYP2C9, CYP2C19, CYP2D6) in the Vietnamese population by using Stargazer and the PharmCAT tool to call star alleles and translating them into phenotypes based on the available dataset of PharmGKB. We compared our computational analysis of the Vietnamese distributions with those of East Asia, Europe, America and other super populations,as well aswith previous experimental research. The allele frequencies and phenotypic distributions of the five important CYPgenes in the Vietnamese population are similar to those in East Asia while significantly different fromother populations. In silico analysis also provided consistent results with previous experimental studies. In addition, the resultant data from our research contributes to the database of genetic variations in pharmacogenetics and constructs the fundamentals for future basic and applied research.
Leukocyte adhesion deficiency type 1 (LAD1) is a rare congenital immunodeficiency disease. The cause of disease is determined to be the mutations in the ITGB2 gene that codes for CD18, the beta chain of beta-2 integrins, leads to decreased expression or functioning of CD18. This deficiency leads to severe impairment of leukocyte adhesion to the vascular wall and leukocyte migration to sites of infection and inflammation. LAD1 has also been associated with inhibition of interleukin-23 and interleukin-17 resulting in a hyperinflammatory and chronic inflammation. Patients with LAD1 typically present in early infancy with recurrent, life threatening infections that are frequently fatal before 2 years of age without hematopoietic stem cell transplant (HSCT). However, LAD1 is difficult to diagnose and many LAD1 patients die at a young age despite intensive antibiotic therapy. Accurate diagnosis requires detailed clinical information (delayed umbilical cord loss, severe periodontitis, delayed wound healing and sores, skin abscesses, and recurrent infection), and confirmation the absence of integrins by flow cytometric analysis. A better understanding of the molecular characteristics of this disease is needed to raise awareness and definitive diagnosis infants with LAD1. To definitive diagnosis, whole exome sequencing and Sanger sequencing were performed in an eighteen-month-old boy with severe leukocytosis, recurrent infections, delayed wound healing, and hepatosplenomegaly associated with an acquired cytomegalovirus infection. Two variants: One previously reported mutation (c.533C>T, p.Pro178Leu) and one novel variant (c.59-1G>A), in the ITGB2 gene were detected. These results can be used for definitive genetic diagnosis, genetic counseling, as well as a prenatal diagnosis in LAD1 patients.
To assess the relationship between male infertility and TEX15 in a Vietnamese cohort, we performed a case-control association study of polymorphism TEX15 rs323345 and a further analysis of haplotypes of TEX15 rs323345 and TEX15 rs142485241. A total of 420 unrelated Vietnamese males, including 212 infertile patients and 208 healthy controls, were recruited for the present study. The genotype and allele frequencies of the polymorphism TEX15 rs323345 were determined by PCR-RFLP method.
Retinoblastoma (Rb) is a rare cancer that develops from the layer of cells in the retina. A germline mutation in the RB1 gene is a high risk factor for Rb. We performed prenatal genetic diagnosis on two pregnant women who had had a child with hereditary Rb and continued checking their newborns' conditions after giving birth. Ultrasound-guided amniocentesis, amniotic cell culture, and Sanger sequencing for the specific RB1 region were used. The analysis results demonstrated that one of the amniotic cell samples was found to carry a genetic mutation that causes the disease, inherited from the father. Neonatal screening confirmed that the corresponding newborn of the amniotic cell sample with the causative gene mutation developed binocular retinoblastoma. Prenatal genetic testing on pregnant women in families with a risk of having a child with retinoblastoma should be performed to prepare a clinical diagnosis and treatment plan for the neonate.
Highly pathogenic avian influenza (HPAI) H5Nx viruses have continually undergone multiple evolutionary dynamics for the generation of various clades, subclades, and genotypes where 2.3.2.2c, and 2.3.4.4 become predominant and co-circulating in Vietnam from 2014 to date. In this study, fifteen H5 sequences in our study and 90 from others from different clades, 0, 1, 1.1, 2.3.2.1a, 2.3.2.1c, 2.3.4, 2.3.4.1, 2.3.4.2, 2.3.4.3 and 2.3.4.4 of H5N1, H5N2, H5N6, were characterized for hemagglutinin (HA) properties, genetic and phylogenetic analyses. Blast searching using the dataset of the full length of two H5N6 viruses revealed one strain, e.g., A/Duck/Vietnam/HT7/2014(H5N6) in May 2014, belonging to the Sichuan 2014-lineage of Group D (Minor). The other strain, A/Chicken/Vietnam/NT3/2017(H5N6)/or CkNT3-2017 in the Spring of 2017, belonged to the Japanese-Korean late 2016-cluster of Group C (Major). This cluster possessed 140NHETS-145del stretch of Leucine/Serine deletion at position 145 in HA1 (S/L145del), distinct from all the 2.3.4.4 H5N6 viruses known to date. There has been no report of the similar CkNT3-2017 of 2.3.4.4 reassortant in Vietnam prior to our study. The migration flyway might be the route for transportation of this novel H5N6 virus from Japan to Vietnam. In addition, the topology revealed another novel subclade of H5N6 (2018–2019) possibly, of the Vietnamese internal reassortments. The “H5Nx” viruses in Vietnam, in fact, have continually undergone multiple evolutionary processes in parallel with those lineages in China and East-Asia. Variations at the key sites in HA and altered genetic characteristics in novel HPAI H5Nx viruses in Vietnam present a caution for the vaccination program and the risk for human infection.
An entomopathogenic fungus, specimen DL0091 parasitized on the larvae of Lepidoptera, was collected from Lang Biang Biosphere Reserve, located in Lam Dong Province, Vietnam. The specimen DL0091 has been analyzed to be contained numerous chemical constituents, especially containing adenosine of 634 mg/Kg and cordycepin of 35.2 mg/Kg. Due to containing many bioactive compounds, DL0091 was promised to be a precious natural source that could be applied in fields of medicine and function food for health care. For classification, based on the morphology analysis, it was identified as Metacordyceps neogunnii (Metacordyceps, Clavicipitaceae) sharing the similar characteristics of M. neogunnii T.C. Wen & K.D. Hyde. Morphology of this species differed from Cordyceps neogunnii (Berk.) Berk., by many characteristics, such as the larger stroma of DL0091 (15–130 mm x 2–6 mm), of asci (550–680 μm × 5–8 μm), etc. Additionally, the combined multi-gene phylogenetic analysis, including ITS, Tef and Rpb1, well supported its systematic position in the clade of M. neogunnii, which was used as traditional herb in China and other Asian countries. In summary, DL0091 was identified as M. neogunnii, containing many bioactive compounds, could be used as the medicinal potential in human healthcare.
In this study, we collected the discarded Citrus limon peel source in Gia Lai province to utilize as a material to build an optimized extraction process with the following criteria: extraction solvent, solvent/sample ratio, extraction temperature, and extraction time. The results showed a stable extraction process with a maximum extraction efficiency of 4.02%, at 40°C, for 3 hours, with two extraction times using 95% ethanol for solvent. Using GC/MS method, the determined limonene content accounted for 12.2% of the extract. The Citrus limon peel extract exhibited potency against Aedes aegypti (arbovirus vector) at a concentration of 0.01 mL, with protection time of 70 minutes and biting percentage of 0.9%, compared to negative control with statistically significant (P < 0.05). The above results correspond with the most recent publications about the effects of mosquito repellence of certain plant-based essential oils. This study has proven that Citrus limon peel in this locality signifies a promising candidature for future studies regarding its main active compound, limonene, in the control of dengue-transmitting vectors. Therefore, Citrus limon peel extract brings hope to develop new mosquito repellency products in the future.
In this study, recombinant NK from B. subtilis R0H1 was purified using two-step membrane filtration. Results showed 3.2-fold increase in activity and a recovery rate of more than 80%. Molecular weight of NK was approximately 28 kDa and its fibrinolytic degradation capacity was proved according to SDS-PAGE. The optimal pH and temperature of this NK were 8.5 and 55°C, respectively. The enzyme activity was boosted by Mg2+, Ca2+ and obviously inhibited by Co2+, Zn+2, Fe2+, and SDS. The apparent Km and Vmax with fibrin as the substrate were 3.08 mM and 6.7 nmol/min, respectively. The results suggested that membrane filtration is a useful method for purification of recombinant NK from B. subtilis R0H1. Therefore, application of membrane system is proposed to purify NK at the pilot scale. In addition, our findings indicated that recombinant NK produced in B. subtilis R0H1 showed high and stable proteolytic activity in slightly alkaline pH and at high temperature. It also exhibited strong fibrinolytic activity again both substrates: fibrinogen and fibrin.
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